ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.839del (p.Ile280fs)

dbSNP: rs1589665663
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001017702 SCV001178824 pathogenic Hereditary cancer-predisposing syndrome 2019-10-15 criteria provided, single submitter clinical testing The c.839delT pathogenic mutation, located in coding exon 8 of the PTEN gene, results from a deletion of one nucleotide at nucleotide position 839, causing a translational frameshift with a predicted alternate stop codon (p.I280Nfs*11). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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